American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 April 2005

Volume 134A, Issue 2

Pages 117–231

  1. Annals of Morphology

    1. Top of page
    2. Annals of Morphology
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
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  2. Rapid Publications

    1. Top of page
    2. Annals of Morphology
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. LIT1 and H19 methylation defects in isolated hemihyperplasia (pages 129–131)

      Rick A. Martin, Dorothy K. Grange, Babara Zehnbauer and Michael R. DeBaun

      Version of Record online: 13 JAN 2005 | DOI: 10.1002/ajmg.a.30578

  3. Research Articles

    1. Top of page
    2. Annals of Morphology
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. High incidence of malformation syndromes in a series of 1,073 children with cancer (pages 132–143)

      Johannes Hans M. Merks, Huib N. Caron and Raoul C.M. Hennekam

      Version of Record online: 14 FEB 2005 | DOI: 10.1002/ajmg.a.30603

    2. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) (pages 144–150)

      Stuart J. Swiedler, Michael Beck, Manal Bajbouj, Roberto Giugliani, Ida Schwartz, Paul Harmatz, James E. Wraith, Jane Roberts, David Ketteridge, John J. Hopwood, Nathalie Guffon, M. Clara Sá Miranda, Elisa Leão Teles, Kenneth I. Berger and Cheri Piscia-Nichols

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30579

    3. Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2 (pages 158–164)

      M. Cristina Digilio, Bruno Marino, Rossella Capolino, Adriano Angioni, Anna Sarkozy, M. Cristina Roberti, Emanuela Conti, Andrea de Zorzi and Bruno Dallapiccola

      Version of Record online: 24 JAN 2005 | DOI: 10.1002/ajmg.a.30587

    4. Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature (pages 165–170)

      Marjolijn Jongmans, Erik A. Sistermans, Alwin Rikken, Willy M. Nillesen, Rienk Tamminga, Michael Patton, Esther M. Maier, Marco Tartaglia, Kees Noordam and Ineke van der Burgt

      Version of Record online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30598

    5. Autosomal dominant inheritance of left ventricular outflow tract obstruction (pages 171–179)

      Marja W. Wessels, Rolf M.F. Berger, Ingrid M.E. Frohn-Mulder, Jolien W. Roos-Hesselink, Jeanette J.M. Hoogeboom, Grazia S. Mancini, Margot M. Bartelings, Ronald de Krijger, Jury W. Wladimiroff, Martinus F. Niermeijer, Paul Grossfeld and Patrick J. Willems

      Version of Record online: 14 FEB 2005 | DOI: 10.1002/ajmg.a.30601

    6. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability (pages 180–186)

      Kim L. McBride, Ricardo Pignatelli, Mark Lewin, Trang Ho, Susan Fernbach, Andres Menesses, Wilbur Lam, Suzanne M. Leal, Norman Kaplan, Paul Schliekelman, Jeffrey A. Towbin and John W. Belmont

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30602

    7. Factors associated with preterm delivery in mothers of children with Beckwith–Wiedemann syndrome: A case cohort study from the BWS registry (pages 187–191)

      Michael F. Wangler, Aimee S. Chang, Kelle H. Moley, Andrew P. Feinberg and Michael R. DeBaun

      Version of Record online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30595

    8. Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies (pages 202–206)

      Regina E. Ensenauer, William J. Shaughnessy, Syed M. Jalal, D. Brian Dawson, Laura K. Courteau and Jay W. Ellison

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30586

  4. Clinical Reports

    1. Top of page
    2. Annals of Morphology
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Prenatal diagnosis of trisomy 1q21-qter: Case report and review of literature (pages 207–211)

      Andrea Machlitt, Peter Kuepferling, Christiane Bommer, Hannelore Koerner and Rabih Chaoui

      Version of Record online: 9 FEB 2005 | DOI: 10.1002/ajmg.a.30588

    2. A kindred with MYH-associated polyposis and pilomatricomas (pages 212–214)

      Silvana Baglioni, German Melean, Francesca Gensini, Marco Santucci, Marco Scatizzi, Laura Papi and Maurizio Genuardi

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30585

    3. Cerebellar hypoplasia—endosteal sclerosis: A long term follow-up (pages 215–219)

      Heval M. Ozgen, Wouterina C.G. Overweg-Plandsoen, Janneke Blees-Pelk, Philip P. Besselaar and Raoul C.M. Hennekam

      Version of Record online: 25 JAN 2005 | DOI: 10.1002/ajmg.a.30589

  5. Research Letters

    1. Top of page
    2. Annals of Morphology
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. NKX2.5 and congenital heart defects: A population-based study (pages 223–225)

      Charlotte A. Hobbs, Mario A. Cleves, Carmen Keith, Sadia Ghaffar and S. Jill James

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30509

    2. Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature (pages 226–228)

      Katja Eggermann, Carsten Bergmann, Inge Heil, Thomas Eggermann, Klaus Zerres and Herdit M. Schüler

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30551

    3. De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3) (pages 229–230)

      Anne Chun-Hui Tsai, Marcie DiGiovanni, Carol Walton and Philip D. Cotter

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30555

  6. Correspondence

    1. Top of page
    2. Annals of Morphology
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Craniosynostosis and ectopia lentis in a propositus whose parents are cousins (page 231)

      Dilek Güven, Defne Kalaycı, Hikmet Hasıripi, Serdar Ceylaner and Gülay Ceylaner

      Version of Record online: 9 FEB 2005 | DOI: 10.1002/ajmg.a.30597

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